| Tag | Content |
|---|---|
| Uniprot ID | A0A3Q2H7W6 |
| Entrez ID | 100063923 |
| Genbank protein ID | |
| Genbank nucleotide ID | XM_001503097.5 |
| Ensembl protein ID | ENSECAP00000029301 |
| Ensembl nucleotide ID | ENSECAG00000023824 |
| Gene name | Bardet-Biedl syndrome 7 protein homolog |
| Gene symbol | BBS7 |
| Organism | Equus caballus |
| NCBI taxa ID | 9796 |
| Cleft type | |
| Developmental stage | |
| Data sources | Homology search |
| Reference | |
| Functional description | The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. |
| Sequence | MDLNLNRADY LQVGVTSQKT MKLLPASRRR ATQKVVVGDH DGVVMCFGMK KGEAVTVFKT 60 LPGQKIARLE LGGVLNTPQE KVFVAAGSEI RGFTKRGKQF LSFETNLTES IKAMHISGSD 120 LFLSASYIYN HYCDCKDQHY YLSGDKINDI ICLPVERLPR ITPVLACQDR VLRVLQGSDV 180 MYEIEVPGPP TVLALHNGNG GDSGEDLMFG TSDGKLGLIQ ITTSKPIHKW EIRNEKKRGG 240 ILCVDNFDIV GDGVKDLLVG RDDGMVEVYS FDNANEPVLR FDQALSESVT SIQGGCVGKD 300 GYDEIVVSTY SGWVTGLTTE PIHKESGPGE ELKINQEMQN KISSLRSELE HLQLKVLQER 360 EKYQQSSQSS KAKSAVPSFS INDKFTLNKD DASYSLTLEV QTAIDNVLIQ SDVPIDLLDV 420 DKNSAVVSFS SCDSESNDNF LLATYRCQAN TTRLELKIRS IEGQYGTLQA YVTPRIQPKT 480 CQVRQYLIKP LSLHQRTHVI DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC 540 VTFYFQNTFL DTQLESTYKK GEGIFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV 600 SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQVHEGNTN FLIPEYRCIL EEADHLQEEY 660 KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPLLLEIL DSYDQNALIA FFDAA 715 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | BBS7 | 476092 | E2RQA6 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | BBS7 | 102188122 | A0A452FKE4 | Capra hircus | Prediction | More>> | ||
| 1:1 ortholog | BBS7 | 100063923 | A0A3Q2H7W6 | Equus caballus | Prediction | More>> | ||
| 1:1 ortholog | BBS7 | 55212 | Q8IWZ6 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Bbs7 | 71492 | Q8K2G4 | CPO,CLP,CLO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | BBS7 | K7BD37 | Pan troglodytes | Prediction | More>> | |||
| 1:1 ortholog | BBS7 | A0A288CFV9 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Bbs7 | 361930 | Q66H90 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | bbs7 | F1Q6W8 | Danio rerio | Prediction | More>> |
| GO ID | GO Term |
|---|---|
| GO:0005930 | axoneme |
| GO:0034464 | BBSome |
| GO:0005813 | centrosome |
| GO:0036064 | ciliary basal body |
| GO:0016020 | membrane |
| GO:0005634 | nucleus |
| GO:0001750 | photoreceptor outer segment |
| GO:0001103 | RNA polymerase II repressing transcription factor binding |
| GO:0007420 | brain development |
| GO:0001654 | eye development |
| GO:0045444 | fat cell differentiation |
| GO:0007507 | heart development |
| GO:0060173 | limb development |
| GO:1905515 | non-motile cilium assembly |
| GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process |
| GO:1903929 | primary palate development |
| GO:0015031 | protein transport |
| GO:0006357 | regulation of transcription by RNA polymerase II |
| GO:0007224 | smoothened signaling pathway |